Biography

    Anita L. DeStefano, Ph.D. is Professor of Biostatistics and Associate Professor of Neurology and Associate Director of the BUMC Genome Science Institute.  She served for 10 years as Co-Director of the Biostatistics Program, which grants MA and Ph.D degrees in Biostatistics. She has developed a course in Statistical Genetics (BS858), which she teaches to MPH, Biostatistics Program, and other graduate students. She is also an instructor in the Summer Institute for Training in Biostatistics.

    Her main research interest is statistical genetics. She is an investigator in the multi-national GenePD study working to identify the genes contributing Parkinson Disease. Dr. DeStefano is also involved in genetic studies in the Framingham Heart Study focusing on stroke, dementia and related endophenotypes.  She is a key contributor to the analysis and development of system resources for the SNP Health Association Resource (SHARe) through which over 9,000 Framingham participants have been genotyped for 550,000 SNPs.

    Dr. DeStefano serves as the Chair of the Linux Cluster for Genetic Analysis (LinGA) computer cluster.  This powerful compute cluster is dedicated to genetic analysis and is a shared resource used by a variety of research groups at Boston University.  

     

Courses Taught in Other Semesters
Stories
Publications
    1. Williams FM, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, Traylor M, Bevan S, Dichgans M, Rothwell PM, Sudlow C, Farrall M, Silander K, Kaunisto M, Wagner P, Saarela O, Kuulasmaa K, Virtamo J, Salomaa V, Amouyel P, Arveiler D, Ferrieres J, Wiklund PG, Arfan Ikram M, Hofman A, Boncoraglio GB, Parati EA, Helgadottir A, Gretarsdottir S, Thorsteinsdottir U, Thorleifsson G, Stefansson K, Seshadri S, Destefano A, Gschwendtner A, Psaty B, Longstreth W, Mitchell BD, Cheng YC, Clarke R, Ferrario M, Bis JC, Levi C, Attia J, Holliday EG, Scott RJ, Fornage M, Sharma P, Furie KL, Rosand J, Nalls M, Meschia J, Mosely TH, Evans A, Palotie A, Markus HS, Grant PJ, Spector TD. Ischemic stroke is associated with the ABO locus: The EuroCLOT study. Ann Neurol. 2013 Jan; 73(1):16-31.
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    2. Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng YC, Fornage M, Ikram MA, Malik R, Bevan S, Thorsteinsdottir U, Nalls MA, Longstreth W, Wiggins KL, Yadav S, Parati EA, Destefano AL, Worrall BB, Kittner SJ, Khan MS, Reiner AP, Helgadottir A, Achterberg S, Fernandez-Cadenas I, Abboud S, Schmidt R, Walters M, Chen WM, Ringelstein EB, O'Donnell M, Ho WK, Pera J, Lemmens R, Norrving B, Higgins P, Benn M, Sale M, Kuhlenbäumer G, Doney AS, Vicente AM, Delavaran H, Algra A, Davies G, Oliveira SA, Palmer CN, Deary I, Schmidt H, Pandolfo M, Montaner J, Carty C, de Bakker PI, Kostulas K, Ferro JM, van Zuydam NR, Valdimarsson E, Nordestgaard BG, Lindgren A, Thijs V, Slowik A, Saleheen D, Paré G, Berger K, Thorleifsson G. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol. 2012 Nov; 11(11):951-62.
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    3. Common variants at 6q22 and 17q21 are associated with intracranial volume. Nat Genet. 2012; 44(5):539-544.
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    4. Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet. 2012; 44(5):545-551.
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    5. Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012 Mar; 8(3):e1002548.
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    6. Dumitriu A, Moser C, Hadzi TC, Williamson SL, Pacheco CD, Hendricks AE, Latourelle JC, Wilk JB, Destefano AL, Myers RH. Postmortem Interval Influences a-Synuclein Expression in Parkinson Disease Brain. Parkinsons Dis. 2012; 2012:614212.
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    7. Pankratz N, Beecham GW, Destefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T. Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2. Ann Neurol. 2012 Mar; 71(3):370-84.
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    8. Ngwa JS, Manning AK, Grimsby JL, Lu C, Zhuang WV, Destefano AL. Pathway analysis following association study. BMC Proc. 2011; 5 Suppl 9:S18.
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    9. Ghosh S, Bickeböller H, Bailey J, Bailey-Wilson JE, Cantor R, Culverhouse R, Daw W, Destefano AL, Engelman CD, Hinrichs A, Houwing-Duistermaat J, König IR, Kent J, Laird N, Pankratz N, Paterson A, Pugh E, Suarez B, Sun Y, Thomas A, Tintle N, Zhu X, Ziegler A, Maccluer JW, Almasy L. Identifying rare variants from exome scans: the GAW17 experience. BMC Proc. 2011; 5 Suppl 9:S1.
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    10. Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, Dörr M, Bis JC, Aspelund T, Esko T, Janssens AC, Zhao JH, Heath S, Laan M, Fu J, Pistis G, Luan J, Arora P, Lucas G, Pirastu N, Pichler I, Jackson AU, Webster RJ, Zhang F, Peden JF, Schmidt H, Tanaka T, Campbell H, Igl W, Milaneschi Y, Hottenga JJ, Vitart V, Chasman DI, Trompet S, Bragg-Gresham JL, Alizadeh BZ, Chambers JC, Guo X, Lehtimäki T, Kühnel B, Lopez LM, Polašek O, Boban M, Nelson CP, Morrison AC, Pihur V, Ganesh SK, Hofman A, Kundu S, Mattace-Raso FU, Rivadeneira F, Sijbrands EJ, Uitterlinden AG, Hwang SJ, Vasan RS, Wang TJ, Bergmann S, Vollenweider P, Waeber G, Laitinen J, Pouta A, Zitting P, McArdle WL, Kroemer HK, Völker U, Völzke H, Glazer NL, Taylor KD, Harris TB, Alavere H, Haller T, Keis A, Tammesoo ML, Aulchenko Y, Barroso I, Khaw KT, Galan P, Hercberg S, Lathrop M, Eyheramendy S, Org E, Sõber S, Lu X, Nolte IM, Penninx BW, Corre T, Masciullo C, Sala C, Groop L, Voight BF, Melander O, O'Donnell CJ, Salomaa V, d'Adamo AP, Fabretto A, Faletra F, Ulivi S, Del Greco M F, Facheris M, Collins FS, Bergman RN, Beilby JP, Hung J, Musk AW, Mangino M, Shin SY, Soranzo N, Watkins H, Goel A, Hamsten A, Gider P, Loitfelder M, Zeginigg M, Hernandez D, Najjar SS, Navarro P, Wild SH, Corsi AM, Singleton A, de Geus EJ, Willemsen G, Parker AN, Rose LM, Buckley B, Stott D, Orru M, Uda M. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011; 43(10):1005-11.
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    11. Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL. Copy number variation in familial Parkinson disease. PLoS One. 2011; 6(8):e20988.
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    12. Debette S, Visvikis-Siest S, Chen MH, Ndiaye NC, Song C, Destefano A, Safa R, Azimi Nezhad M, Sawyer D, Marteau JB, Xanthakis V, Siest G, Sullivan L, Pfister M, Smith H, Choi SH, Lamont J, Lind L, Yang Q, Fitzgerald P, Ingelsson E, Vasan RS, Seshadri S. Identification of cis- and trans-Acting Genetic Variants Explaining Up to Half the Variation in Circulating Vascular Endothelial Growth Factor Levels. Circ Res. 2011 Aug 19; 109(5):554-63.
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    13. Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T. Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord. 2011 Sep; 26(11):2039-44.
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    14. Fornage M, Debette S, Bis JC, Schmidt H, Ikram MA, Dufouil C, Sigurdsson S, Lumley T, Destefano AL, Fazekas F, Vrooman HA, Shibata DK, Maillard P, Zijdenbos A, Smith AV, Gudnason H, de Boer R, Cushman M, Mazoyer B, Heiss G, Vernooij MW, Enzinger C, Glazer NL, Beiser A, Knopman DS, Cavalieri M, Niessen WJ, Harris TB, Petrovic K, Lopez OL, Au R, Lambert JC, Hofman A, Gottesman RF, Garcia M, Heckbert SR, Atwood LD, Catellier DJ, Uitterlinden AG, Yang Q, Smith NL, Aspelund T, Romero JR, Rice K, Taylor KD, Nalls MA, Rotter JI, Sharrett R, van Duijn CM, Amouyel P, Wolf PA, Gudnason V, van der Lugt A, Boerwinkle E, Psaty BM, Seshadri S, Tzourio C, Breteler MM, Mosley TH, Schmidt R, Longstreth WT, Decarli C, Launer LJ. Genome-wide association studies of cerebral white matter lesion burden: The CHARGE consortium. Ann Neurol. 2011 Jun; 69(6):928-39.
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    15. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May; 43(5):429-35.
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    16. Broer L, Ikram MA, Schuur M, Destefano AL, Bis JC, Liu F, Rivadeneira F, Uitterlinden AG, Beiser AS, Longstreth WT, Hofman A, Aulchenko Y, Seshadri S, Fitzpatrick AL, Oostra BA, Breteler MM, van Duijn CM. Association of HSP70 and its Co-Chaperones with Alzheimer's Disease. J Alzheimers Dis. 2011 Jan 1; 25(1):93-102.
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    17. Chen G, Wei P, Destefano AL. Incorporating biological information into association studies of sequencing data. Genet Epidemiol. 2011; 35 Suppl 1:S29-34.
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    18. Latourelle JC, Dybdahl M, Destefano AL, Myers RH, Lash TL. Estrogen-related and other disease diagnoses preceding Parkinson's disease. Clin Epidemiol. 2010; 2:153-70.
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    19. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carassquillo MM, Lambert JC, Harold D, Schrijvers EM, Ramirez-Lorca R, Debette S, Longstreth WT, Janssens AC, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG, Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MM. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010 May 12; 303(18):1832-40.
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    20. Latourelle JC, Dybdahl M, Destefano AL, Myers RH, Lash TL. Risk of Parkinson's disease after tamoxifen treatment. BMC Neurol. 2010; 10:23.
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    21. Seshadri S, Beiser A, Pikula A, Himali JJ, Kelly-Hayes M, Debette S, DeStefano AL, Romero JR, Kase CS, Wolf PA. Parental occurrence of stroke and risk of stroke in their children: the Framingham study. Circulation. 2010 Mar 23; 121(11):1304-12.
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    22. Debette S, Bis JC, Fornage M, Schmidt H, Ikram MA, Sigurdsson S, Heiss G, Struchalin M, Smith AV, van der Lugt A, DeCarli C, Lumley T, Knopman DS, Enzinger C, Eiriksdottir G, Koudstaal PJ, DeStefano AL, Psaty BM, Dufouil C, Catellier DJ, Fazekas F, Aspelund T, Aulchenko YS, Beiser A, Rotter JI, Tzourio C, Shibata DK, Tscherner M, Harris TB, Rivadeneira F, Atwood LD, Rice K, Gottesman RF, van Buchem MA, Uitterlinden AG, Kelly-Hayes M, Cushman M, Zhu Y, Boerwinkle E, Gudnason V, Hofman A, Romero JR, Lopez O, van Duijn CM, Au R, Heckbert SR, Wolf PA, Mosley TH, Seshadri S, Breteler MM, Schmidt R, Launer LJ, Longstreth WT. Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium. Stroke. 2010 Feb; 41(2):210-7.
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    23. Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T. Genomewide association study for onset age in Parkinson disease. BMC Med Genet. 2009; 10:98.
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    24. DeStefano AL, Seshadri S, Beiser A, Atwood LD, Massaro JM, Au R, Wolf PA, DeCarli C. Bivariate heritability of total and regional brain volumes: the Framingham Study. Alzheimer Dis Assoc Disord. 2009 Jul-Sep; 23(3):218-23.
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    25. Ikram MA, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS, Debette S, Lumley T, Folsom AR, van den Herik EG, Bos MJ, Beiser A, Cushman M, Launer LJ, Shahar E, Struchalin M, Du Y, Glazer NL, Rosamond WD, Rivadeneira F, Kelly-Hayes M, Lopez OL, Coresh J, Hofman A, DeCarli C, Heckbert SR, Koudstaal PJ, Yang Q, Smith NL, Kase CS, Rice K, Haritunians T, Roks G, de Kort PL, Taylor KD, de Lau LM, Oostra BA, Uitterlinden AG, Rotter JI, Boerwinkle E, Psaty BM, Mosley TH, van Duijn CM, Breteler MM, Longstreth WT, Wolf PA. Genomewide association studies of stroke. N Engl J Med. 2009 Apr 23; 360(17):1718-28.
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    26. Cui J, Taylor KE, Destefano AL, Criswell LA, Izmailova ES, Parker A, Roubenoff R, Plenge RM, Weinblatt ME, Shadick NA, Karlson EW. Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis. Mol Med. 2009 May-Jun; 15(5-6):136-43.
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    27. Guo CY, Lunetta KL, DeStefano AL, Cupples LA. Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls. Genet Epidemiol. 2009 Jan; 33(1):54-62.
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    28. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009 Jan; 124(6):593-605.
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    29. Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 2008; 6:32.
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    30. McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008 Aug 15; 23(11):1596-601.
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    31. DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 2008 Aug; 124(1):95-9.
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    32. Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology. 2008 Jul 1; 71(1):28-34.
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    33. Meng Y, Yang Q, Cuenco KT, Cupples LA, Destefano AL, Lunetta KL. Two-stage approach for identifying single-nucleotide polymorphisms associated with rheumatoid arthritis using random forests and Bayesian networks. BMC Proc. 2007; 1 Suppl 1:S56.
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    34. Seshadri S, DeStefano AL, Au R, Massaro JM, Beiser AS, Kelly-Hayes M, Kase CS, D'Agostino RB, Decarli C, Atwood LD, Wolf PA. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC Med Genet. 2007; 8 Suppl 1:S15.
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    35. Laramie JM, Wilk JB, DeStefano AL, Myers RH. HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studies. Bioinformatics. 2007 Aug 15; 23(16):2190-2.
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    36. Guo CY, Lunetta KL, DeStefano AL, Ordovas JM, Cupples LA. Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring. Genet Epidemiol. 2007 Feb; 31(2):115-33.
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    37. Tobin JE, Cui J, Wilk JB, Latourelle JC, Laramie JM, McKee AC, Guttman M, Karamohamed S, DeStefano AL, Myers RH. Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. Brain Res. 2007 Mar 30; 1139:42-7.
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    38. Cupples LA, Arruda HT, Benjamin EJ, D'Agostino RB, Demissie S, DeStefano AL, Dupuis J, Falls KM, Fox CS, Gottlieb DJ, Govindaraju DR, Guo CY, Heard-Costa NL, Hwang SJ, Kathiresan S, Kiel DP, Laramie JM, Larson MG, Levy D, Liu CY, Lunetta KL, Mailman MD, Manning AK, Meigs JB, Murabito JM, Newton-Cheh C, O'Connor GT, O'Donnell CJ, Pandey M, Seshadri S, Vasan RS, Wang ZY, Wilk JB, Wolf PA, Yang Q, Atwood LD. The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet. 2007; 8 Suppl 1:S1.
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    39. Ziegler A, DeStefano AL, König IR, Bardel C, Brinza D, Bull S, Cai Z, Glaser B, Jiang W, Lee KE, Li CX, Li J, Li X, Majoram P, Meng Y, Nicodemus KK, Platt A, Schwarz DF, Shi W, Shugart YY, Stassen HH, Sun YV, Won S, Wang W, Wahba G, Zagaar UA, Zhao Z. Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15. Genet Epidemiol. 2007; 31 Suppl 1:S51-60.
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    40. Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 2006 Dec 26; 67(12):2206-10.
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    41. Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun; 63(6):826-32.
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    42. Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology. 2005 Dec 13; 65(11):1823-5.
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    43. DeStefano AL, Atwood LD, Massaro JM, Heard-Costa N, Beiser A, Au R, Wolf PA, DeCarli C. Genome-wide scan for white matter hyperintensity: the Framingham Heart Study. Stroke. 2006 Jan; 37(1):77-81.
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    44. Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, DeStefano AL, Latourelle JC, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Herbert A, Myers RH. Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Mov Disord. 2005 Sep; 20(9):1188-91.
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    45. Russo CJ, Melista E, Cui J, DeStefano AL, Bakris GL, Manolis AJ, Gavras H, Baldwin CT. Association of NEDD4L ubiquitin ligase with essential hypertension. Hypertension. 2005 Sep; 46(3):488-91.
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    46. Mitchell GF, DeStefano AL, Larson MG, Benjamin EJ, Chen MH, Vasan RS, Vita JA, Levy D. Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart Study. Circulation. 2005 Jul 12; 112(2):194-9.
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    47. Guo CY, DeStefano AL, Lunetta KL, Dupuis J, Cupples LA. Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios. Hum Hered. 2005; 59(3):125-35.
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    48. Cui J, Melista E, Chazaro I, Zhang Y, Zhou X, Manolis AJ, Baldwin CT, Destefano AL, Gavras H. Sequence variation of bradykinin receptors B1 and B2 and association with hypertension. J Hypertens. 2005 Jan; 23(1):55-62.
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    49. Zhou XF, Cui J, DeStefano AL, Chazaro I, Farrer LA, Manolis AJ, Gavras H, Baldwin CT. Polymorphisms in the promoter region of catalase gene and essential hypertension. Dis Markers. 2005; 21(1):3-7.
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    50. Gottlieb DJ, DeStefano AL, Foley DJ, Mignot E, Redline S, Givelber RJ, Young T. APOE epsilon4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study. Neurology. 2004 Aug 24; 63(4):664-8.
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    51. DeStefano AL, Larson MG, Mitchell GF, Benjamin EJ, Vasan RS, Li J, Corey D, Levy D. Genome-wide scan for pulse pressure in the National Heart, Lung and Blood Institute's Framingham Heart Study. Hypertension. 2004 Aug; 44(2):152-5.
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    52. Jiang Y, Wilk JB, Borecki I, Williamson S, DeStefano AL, Xu G, Liu J, Ellison RC, Province M, Myers RH. Common variants in the 5' region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study. Am J Hum Genet. 2004 Aug; 75(2):220-30.
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    53. Yang Q, Chazaro I, Cui J, Guo CY, Demissie S, Larson M, Atwood LD, Cupples LA, DeStefano AL. Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach. BMC Genet. 2003; 4 Suppl 1:S29.
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    54. Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Fink SJ, Myers RH, Herbert A. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology. 2003 Dec 9; 61(11):1557-61.
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    55. Cui J, Zhou X, Chazaro I, DeStefano AL, Manolis AJ, Baldwin CT, Gavras H. Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites. Am J Hypertens. 2003 Oct; 16(10):859-63.
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    56. Wilk JB, DeStefano AL, Joost O, Myers RH, Cupples LA, Slater K, Atwood LD, Heard-Costa NL, Herbert A, O'Connor GT, Gottlieb DJ. Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study. Hum Mol Genet. 2003 Nov 1; 12(21):2745-51.
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    57. Erlich PM, Cui J, Chazaro I, Farrer LA, Baldwin CT, Gavras H, DeStefano AL. Genetic variants of WNK4 in whites and African Americans with hypertension. Hypertension. 2003 Jun; 41(6):1191-5.
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    58. Wilk JB, DeStefano AL, Arnett DK, Rich SS, Djousse L, Crapo RO, Leppert MF, Province MA, Cupples LA, Gottlieb DJ, Myers RH. A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study. Am J Respir Crit Care Med. 2003 Jun 1; 167(11):1528-33.
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    59. DeStefano AL, Gates GA, Heard-Costa N, Myers RH, Baldwin CT. Genomewide linkage analysis to presbycusis in the Framingham Heart Study. Arch Otolaryngol Head Neck Surg. 2003 Mar; 129(3):285-9.
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    60. Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT. Is DFNA5 a susceptibility gene for age-related hearing impairment? Eur J Hum Genet. 2002 Dec; 10(12):883-6.
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    61. DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet. 2002 May; 70(5):1089-95.
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    62. DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 2001 Sep 25; 57(6):1124-6.
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    63. DeStefano AL, Gavras H, Heard-Costa N, Bursztyn M, Manolis A, Farrer LA, Baldwin CT, Gavras I, Schwartz F. Maternal component in the familial aggregation of hypertension. Clin Genet. 2001 Jul; 60(1):13-21.
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    64. Wilk JB, Volcjak JS, Myers RH, Maher NE, Knowlton BA, Heard-Costa NL, Demissie S, Cupples LA, DeStefano AL. Family-based association tests for qualitative and quantitative traits using single-nucleotide polymorphism and microsatellite data. Genet Epidemiol. 2001; 21 Suppl 1:S364-9.
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    65. Heard-Costa NL, Demissie S, DeStefano AL, Knowlton BA, Maher NE, Myers RH, Volcjak JS, Wilk JB, Cupples LA. Influence of marker heterozygosity and genetic heterogeneity on fine mapping. Genet Epidemiol. 2001; 21 Suppl 1:S467-72.
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    66. Levy D, DeStefano AL, Larson MG, O'Donnell CJ, Lifton RP, Gavras H, Cupples LA, Myers RH. Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study. Hypertension. 2000 Oct; 36(4):477-83.
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    67. Shearman AM, Ordovas JM, Cupples LA, Schaefer EJ, Harmon MD, Shao Y, Keen JD, DeStefano AL, Joost O, Wilson PW, Housman DE, Myers RH. Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study. Hum Mol Genet. 2000 May 22; 9(9):1315-20.
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    68. Nicolaou M, DeStefano AL, Gavras I, Cupples LA, Manolis AJ, Baldwin CT, Gavras H, Farrer LA. Genetic predisposition to stroke in relatives of hypertensives. Stroke. 2000 Feb; 31(2):487-92.
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    69. Baldwin CT, Schwartz F, Baima J, Burzstyn M, DeStefano AL, Gavras I, Handy DE, Joost O, Martel T, Manolis A, Nicolaou M, Bresnahan M, Farrer L, Gavras H. Identification of a polymorphic glutamic acid stretch in the alpha2B-adrenergic receptor and lack of linkage with essential hypertension. Am J Hypertens. 1999 Sep; 12(9 Pt 1):853-7.
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    70. Baima J, Nicolaou M, Schwartz F, DeStefano AL, Manolis A, Gavras I, Laffer C, Elijovich F, Farrer L, Baldwin CT, Gavras H. Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. Hypertension. 1999 Jul; 34(1):4-7.
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    71. Milunsky A, Huang XL, Milunsky J, DeStefano A, Baldwin CT. A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin Genet. 1999 Jul; 56(1):82-5.
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    72. Nicolaou M, Premkumar S, DeStefano AL, Farrer LA, Cupples LA. Power of concordant versus discordant sib pairs at different penetrance levels. Genet Epidemiol. 1999; 17 Suppl 1:S679-84.
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    73. Wilk JB, Premkumar S, Nicolaou M, Myers RH, Maher NE, Harmon MD, Farrer LA, DeStefano AL, Cupples LA, Couropmitree NN. Stratification techniques to explore genotype environment interactions. Genet Epidemiol. 1999; 17 Suppl 1:S761-6.
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    74. DeStefano AL, Baldwin CT, Burzstyn M, Gavras I, Handy DE, Joost O, Martel T, Nicolaou M, Schwartz F, Streeten DH, Farrer LA, Gavras H. Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q. Am J Hum Genet. 1998 Nov; 63(5):1425-30.
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    75. DeStefano AL, Cupples LA, Arnos KS, Asher JH, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet. 1998 May; 102(5):499-506.
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    76. Milunsky J, DeStefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A. Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet. 1997 Oct 3; 72(1):66-70.
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    77. DeStefano AL, Cupples LA, Myers RH, Farrer LA. Detecting linkage for a complex disease using simulated extended pedigrees. Genet Epidemiol. 1997; 14(6):981-6.
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    78. Gaspar C, Lopes-Cendes I, DeStefano AL, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer LA, Rouleau GA. Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum Genet. 1996 Nov; 98(5):620-4.
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    79. DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod P, et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet. 1996 Jul; 59(1):119-27.
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    80. Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. A novel mutation in the MITF gene causes Waardenburg syndrome type 2. Genet Anal. 1996 Jul; 13(2):43-4.
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    81. Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet. 1996 Jun; 58(6):1254-9.
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    82. DeStefano AL, Farrer LA, Maciel P, Gaspar C, Rouleau GA, Coutinho P, Sequeiros J. Gender equality in Machado-Joseph disease. Nat Genet. 1995 Oct; 11(2):118-9.
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    83. Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimarães J, Loureiro JE, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995 Jul; 57(1):54-61.
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